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Q68CQ7

- GL8D1_HUMAN

UniProt

Q68CQ7 - GL8D1_HUMAN

Protein

Glycosyltransferase 8 domain-containing protein 1

Gene

GLT8D1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 2 (29 May 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Protein family/group databases

    CAZyiGT8. Glycosyltransferase Family 8.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycosyltransferase 8 domain-containing protein 1 (EC:2.4.1.-)
    Gene namesi
    Name:GLT8D1
    Synonyms:GALA4A
    ORF Names:AD-017, MSTP137, UNQ572/PRO1134
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:24870. GLT8D1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134947079.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 371371Glycosyltransferase 8 domain-containing protein 1PRO_0000288528Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi249 – 2491N-linked (GlcNAc...)1 Publication
    Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ68CQ7.
    PaxDbiQ68CQ7.
    PRIDEiQ68CQ7.

    PTM databases

    PhosphoSiteiQ68CQ7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ68CQ7.
    BgeeiQ68CQ7.
    CleanExiHS_GLT8D1.
    GenevestigatoriQ68CQ7.

    Organism-specific databases

    HPAiHPA010588.

    Interactioni

    Protein-protein interaction databases

    BioGridi120935. 1 interaction.
    STRINGi9606.ENSP00000266014.

    Structurei

    3D structure databases

    ProteinModelPortaliQ68CQ7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 371343LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 8 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG74598.
    HOGENOMiHOG000112730.
    HOVERGENiHBG055240.
    InParanoidiQ68CQ7.
    OMAiPIDFVPN.
    OrthoDBiEOG7RBZ8R.
    PhylomeDBiQ68CQ7.
    TreeFamiTF332433.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF01501. Glyco_transf_8. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q68CQ7-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF    50
    VPNALRHAVD GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV 100
    TLNNTADHLR SWLNSDSLKS IRYKIVNFDP KLLEGKVKED PDQGESMKPL 150
    TFARFYLPIL VPSAKKAIYM DDDVIVQGDI LALYNTALKP GHAAAFSEDC 200
    DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS FNPGVFVANL 250
    TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID 300
    PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY 350
    IPDPTGKFNL IRRYTEISNI K 371
    Length:371
    Mass (Da):41,935
    Last modified:May 29, 2007 - v2
    Checksum:i43492FB4E678F3D0
    GO
    Isoform 2 (identifier: Q68CQ7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         216-259: YNYIGYLDYK...LTEWKRQNIT → VNCLPNTPLP...FIPNLKPAFL
         260-371: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:259
    Mass (Da):28,544
    Checksum:iEF8FB0768DA499AC
    GO

    Sequence cautioni

    The sequence AAQ13652.1 differs from that shown. Reason: Frameshift at positions 26, 52, 66, 75, 85, 300, 309, 315, 317 and 349.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti50 – 501F → C in AAQ13652. 1 PublicationCurated
    Sequence conflicti201 – 2011D → G in CAH18681. (PubMed:17974005)Curated
    Sequence conflicti301 – 3011P → L in AAQ13652. 1 PublicationCurated
    Sequence conflicti349 – 3491W → G in AAQ13652. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti210 – 2101R → H.1 Publication
    Corresponds to variant rs2276812 [ dbSNP | Ensembl ].
    VAR_032443

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei216 – 25944YNYIG…RQNIT → VNCLPNTPLPTILFNGKRLQ IQGTLLLQFTLPNHFIPNLK PAFL in isoform 2. 1 PublicationVSP_025705Add
    BLAST
    Alternative sequencei260 – 371112Missing in isoform 2. 1 PublicationVSP_025706Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271710 mRNA. Translation: CAC19666.1.
    AF157318 mRNA. Translation: AAF67484.1.
    AY358579 mRNA. Translation: AAQ88942.1.
    AK027517 mRNA. Translation: BAB55170.1.
    AK075031 mRNA. Translation: BAC11363.1.
    CR749821 mRNA. Translation: CAH18681.1.
    BC119670 mRNA. Translation: AAI19671.1.
    BC119671 mRNA. Translation: AAI19672.1.
    AF175227 mRNA. Translation: AAQ13652.1. Frameshift.
    CCDSiCCDS2862.1. [Q68CQ7-1]
    RefSeqiNP_001010983.1. NM_001010983.2. [Q68CQ7-1]
    NP_001265209.1. NM_001278280.1. [Q68CQ7-1]
    NP_001265210.1. NM_001278281.1. [Q68CQ7-1]
    NP_060916.1. NM_018446.3. [Q68CQ7-1]
    NP_690909.1. NM_152932.2. [Q68CQ7-1]
    XP_006713323.1. XM_006713260.1. [Q68CQ7-1]
    UniGeneiHs.297304.

    Genome annotation databases

    EnsembliENST00000266014; ENSP00000266014; ENSG00000016864. [Q68CQ7-1]
    ENST00000394783; ENSP00000378263; ENSG00000016864. [Q68CQ7-1]
    ENST00000407584; ENSP00000385730; ENSG00000016864. [Q68CQ7-1]
    ENST00000478968; ENSP00000419612; ENSG00000016864. [Q68CQ7-1]
    ENST00000491606; ENSP00000418853; ENSG00000016864. [Q68CQ7-1]
    GeneIDi55830.
    KEGGihsa:55830.
    UCSCiuc003dfi.4. human. [Q68CQ7-1]

    Polymorphism databases

    DMDMi152125896.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271710 mRNA. Translation: CAC19666.1 .
    AF157318 mRNA. Translation: AAF67484.1 .
    AY358579 mRNA. Translation: AAQ88942.1 .
    AK027517 mRNA. Translation: BAB55170.1 .
    AK075031 mRNA. Translation: BAC11363.1 .
    CR749821 mRNA. Translation: CAH18681.1 .
    BC119670 mRNA. Translation: AAI19671.1 .
    BC119671 mRNA. Translation: AAI19672.1 .
    AF175227 mRNA. Translation: AAQ13652.1 . Frameshift.
    CCDSi CCDS2862.1. [Q68CQ7-1 ]
    RefSeqi NP_001010983.1. NM_001010983.2. [Q68CQ7-1 ]
    NP_001265209.1. NM_001278280.1. [Q68CQ7-1 ]
    NP_001265210.1. NM_001278281.1. [Q68CQ7-1 ]
    NP_060916.1. NM_018446.3. [Q68CQ7-1 ]
    NP_690909.1. NM_152932.2. [Q68CQ7-1 ]
    XP_006713323.1. XM_006713260.1. [Q68CQ7-1 ]
    UniGenei Hs.297304.

    3D structure databases

    ProteinModelPortali Q68CQ7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120935. 1 interaction.
    STRINGi 9606.ENSP00000266014.

    Protein family/group databases

    CAZyi GT8. Glycosyltransferase Family 8.

    PTM databases

    PhosphoSitei Q68CQ7.

    Polymorphism databases

    DMDMi 152125896.

    Proteomic databases

    MaxQBi Q68CQ7.
    PaxDbi Q68CQ7.
    PRIDEi Q68CQ7.

    Protocols and materials databases

    DNASUi 55830.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266014 ; ENSP00000266014 ; ENSG00000016864 . [Q68CQ7-1 ]
    ENST00000394783 ; ENSP00000378263 ; ENSG00000016864 . [Q68CQ7-1 ]
    ENST00000407584 ; ENSP00000385730 ; ENSG00000016864 . [Q68CQ7-1 ]
    ENST00000478968 ; ENSP00000419612 ; ENSG00000016864 . [Q68CQ7-1 ]
    ENST00000491606 ; ENSP00000418853 ; ENSG00000016864 . [Q68CQ7-1 ]
    GeneIDi 55830.
    KEGGi hsa:55830.
    UCSCi uc003dfi.4. human. [Q68CQ7-1 ]

    Organism-specific databases

    CTDi 55830.
    GeneCardsi GC03M052704.
    HGNCi HGNC:24870. GLT8D1.
    HPAi HPA010588.
    neXtProti NX_Q68CQ7.
    PharmGKBi PA134947079.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74598.
    HOGENOMi HOG000112730.
    HOVERGENi HBG055240.
    InParanoidi Q68CQ7.
    OMAi PIDFVPN.
    OrthoDBi EOG7RBZ8R.
    PhylomeDBi Q68CQ7.
    TreeFami TF332433.

    Miscellaneous databases

    ChiTaRSi GLT8D1. human.
    GenomeRNAii 55830.
    NextBioi 61037.
    PROi Q68CQ7.

    Gene expression databases

    ArrayExpressi Q68CQ7.
    Bgeei Q68CQ7.
    CleanExi HS_GLT8D1.
    Genevestigatori Q68CQ7.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF01501. Glyco_transf_8. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "gala4a, glycosyltransferase."
      Steffensen R., Bennett E.P.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Adrenal gland.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Ovary and Teratocarcinoma.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Fetus.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. Sheng H., Qin B.M., Liu Y.Q., Zhao B., Liu B., Wang X.Y., Hui R.T.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-210.
      Tissue: Aorta.
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-249.
      Tissue: Liver.

    Entry informationi

    Entry nameiGL8D1_HUMAN
    AccessioniPrimary (citable) accession number: Q68CQ7
    Secondary accession number(s): Q7Z4D1, Q8N2J6, Q9P0I5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: May 29, 2007
    Last modified: October 1, 2014
    This is version 77 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3